Variant (rsID / SNP)
rs187153231
rs187153231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN8A. Location: chromosome 12, position 52,139,786. Clinical significance in the table: Benign.
Reference-table entries
SCN8ABenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:52139786
- Cytoband
- 12q13.13
- HGVS
- NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
- Allele change
- Missense_I700L
Associated conditions / phenotypes
History of neurodevelopmental disorder|Early infantile epileptic encephalopathy with suppression bursts
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.